| Autor: |
Lang-Muritano, Mariarosaria, Sproll, Patrick, Wyss, Sascha, Kolly, Anne, Hürlimann, Renate, Konrad, Daniel, Biason-Lauber, Anna |
| Zdroj: |
The Journal of Clinical Endocrinology & Metabolism; October 2018, Vol. 103 Issue: 10 p3748-3756, 9p |
| Abstrakt: |
Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic variants of ESR2 were linked to gonadal defects in women. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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